Incidental Mutation 'IGL02103:Rae1'
ID279851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rae1
Ensembl Gene ENSMUSG00000027509
Gene Nameribonucleic acid export 1
SynonymsD2Ertd342e, MNRP, MNRP41, 41
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02103
Quality Score
Status
Chromosome2
Chromosomal Location173000117-173015739 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 173003513 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 33 (E33K)
Ref Sequence ENSEMBL: ENSMUSP00000029013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029013] [ENSMUST00000132212]
Predicted Effect probably damaging
Transcript: ENSMUST00000029013
AA Change: E33K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029013
Gene: ENSMUSG00000027509
AA Change: E33K

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
WD40 28 70 9.59e-1 SMART
WD40 76 114 9.82e-8 SMART
WD40 117 157 1.12e-2 SMART
Blast:WD40 160 195 2e-9 BLAST
Blast:WD40 202 244 8e-10 BLAST
WD40 250 301 1.14e-3 SMART
Blast:WD40 304 346 7e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124793
Predicted Effect possibly damaging
Transcript: ENSMUST00000132212
AA Change: E33K

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121815
Gene: ENSMUSG00000027509
AA Change: E33K

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
WD40 28 70 9.59e-1 SMART
WD40 76 114 9.82e-8 SMART
WD40 117 157 1.12e-2 SMART
Blast:WD40 160 195 6e-9 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are embryonic lethal. Heterozygous mutant mice exhibit a mitotic checkpoint defect and chromosome missegregation as well as an increased incidence of chemically-induced lung tumors; however, no spontaneous tumor formation or signs of early aging are observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Rae1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Rae1 APN 2 173006933 missense probably damaging 0.98
R0012:Rae1 UTSW 2 173002673 missense unknown
R0012:Rae1 UTSW 2 173002673 missense unknown
R0684:Rae1 UTSW 2 173005164 missense probably damaging 1.00
R1725:Rae1 UTSW 2 173006961 missense possibly damaging 0.77
R3813:Rae1 UTSW 2 173006873 splice site probably benign
R4537:Rae1 UTSW 2 173015392 utr 3 prime probably benign
R4540:Rae1 UTSW 2 173015392 utr 3 prime probably benign
R4710:Rae1 UTSW 2 173015392 utr 3 prime probably benign
R4731:Rae1 UTSW 2 173015392 utr 3 prime probably benign
R4979:Rae1 UTSW 2 173012608 unclassified probably benign
R6723:Rae1 UTSW 2 173012248 missense probably damaging 1.00
Posted On2015-04-16